Canonical Allele Identifier: CA10582884

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 237222
• ClinVar RCV Id: RCV000234400
• dbSNP Id: rs878853753
• gnomAD v4: 11-2587646-G-A
• MyVariant Identifiers: chr11:g.2608876G>A (hg19) ; chr11:g.2587646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587646G>A , CM000673.2:g.2587646G>A	GRCh38
NC_000011.9:g.2608876G>A , CM000673.1:g.2608876G>A	GRCh37
NC_000011.8:g.2565452G>A	NCBI36
NG_008935.1:g.147656G>A , LRG_287:g.147656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.848G>A	ENSP00000434560.2:p.Ser283Asn
ENST00000646564.2:c.665G>A	ENSP00000495806.2:p.Ser222Asn
ENST00000155840.12:c.1205G>A MANE Select	ENSP00000155840.2:p.Ser402Asn
ENST00000335475.6:c.824G>A	ENSP00000334497.5:p.Ser275Asn
ENST00000646564.1:c.311G>A	ENSP00000495806.1:p.Ser104Asn
ENST00000155840.9:c.1205G>A	ENSP00000155840.2:p.Ser402Asn
ENST00000335475.5:c.824G>A	ENSP00000334497.5:p.Ser275Asn
NM_000218.2:c.1205G>A , LRG_287t1:c.1205G>A	NP_000209.2:p.Ser402Asn
NM_181798.1:c.824G>A , LRG_287t2:c.824G>A	NP_861463.1:p.Ser275Asn
NM_000218.3:c.1205G>A MANE Select	NP_000209.2:p.Ser402Asn